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Molecular Neurobiology · 2025 · Vol. 62 · Issue 9 · Springer
Apert syndrome (AS) is a rare autosomal dominant disorder characterized by various congenital malformations. In this study, we aimed to explore the clinical presentation of Apert syndrome to enhance awareness among multidisciplinary healthcare providers regarding its differential diagnosis through the phenotype/genotype characterization of six Egyptian patients with AS. We examined six patients with Apert syndrome: four female...